exonic_splice_region_variant [SO_0002084]
A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary.
exonic_splice_region_variant
ID: SO_0002084
Class
A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary.
Open in VFB 3D Browser →Classification
Alternative Names
| Synonym | Scope | Reference |
|---|---|---|
| ANNOVAR:exonic;splicing | exact synonym | VAR |
| exonic splice region variant | exact synonym | |
| Seattleseq:coding-near-splice | related synonym | VAR |
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